Variant report

Variant	rs2272092
Chromosome Location	chr7:150264645-150264646
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10235836	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10237091	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10237569	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10238055	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10238068	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10254007	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538768	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12538773	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1317559	0.82[CEU][hapmap];0.87[CHB][hapmap];0.85[AFR][1000 genomes]
rs1403221	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1403222	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1522595	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1568628	1.00[CEU][hapmap]
rs1879865	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879866	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879867	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1879871	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1879872	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1916000	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1916002	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1916010	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1969393	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2090955	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2140140	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2140141	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204129	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204130	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373807	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373808	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373809	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373811	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373813	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2373816	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2888665	0.85[AFR][1000 genomes]
rs2888666	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3735081	0.81[JPT][hapmap]
rs3946494	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725346	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725347	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725915	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4725916	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59385901	0.85[AFR][1000 genomes]
rs62491782	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6464075	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6464078	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6464080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6464082	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6949018	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960291	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6980388	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7785909	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7792574	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7808866	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs939957	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs939958	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9632622	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9691770	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9986804	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1025129	chr7:150146593-150266217	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3341786	chr7:150220353-150269134	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
10	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2272092	GIMAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150260800-150265000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:150262000-150265000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:150263400-150265200	Enhancers	H1 Cell Line	embryonic stem cell
4	chr7:150263800-150265200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:150263800-150265400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr7:150263800-150266600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:150263800-150266800	Active TSS	Adipose Nuclei	Adipose
8	chr7:150263800-150267600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr7:150263800-150267800	Active TSS	Rectal Smooth Muscle	rectum
10	chr7:150264000-150266200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:150264000-150266600	Active TSS	Stomach Smooth Muscle	stomach
12	chr7:150264000-150267000	Active TSS	Right Atrium	heart
13	chr7:150264000-150267000	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:150264000-150267400	Active TSS	Brain Hippocampus Middle	brain
15	chr7:150264000-150268200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:150264200-150264800	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr7:150264200-150264800	Enhancers	Dnd41	blood
18	chr7:150264200-150264800	Flanking Active TSS	HUVEC	blood vessel
19	chr7:150264200-150265400	Active TSS	GM12878-XiMat	blood
20	chr7:150264200-150265800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:150264200-150265800	Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr7:150264200-150266000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr7:150264200-150266200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:150264200-150266400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:150264200-150266600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:150264200-150266800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr7:150264200-150266800	Active TSS	Brain Anterior Caudate	brain
28	chr7:150264400-150265200	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr7:150264400-150265200	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr7:150264400-150265200	Active TSS	Brain Angular Gyrus	brain
31	chr7:150264400-150265200	Active TSS	Fetal Kidney	kidney
32	chr7:150264400-150265200	Flanking Active TSS	Fetal Thymus	thymus
33	chr7:150264400-150265200	Active TSS	Pancreas	Pancrea
34	chr7:150264400-150265200	Active TSS	Spleen	Spleen
35	chr7:150264400-150265400	Active TSS	Fetal Intestine Small	intestine
36	chr7:150264400-150265400	Active TSS	Small Intestine	intestine
37	chr7:150264400-150265800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:150264400-150266000	Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:150264400-150266000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:150264400-150266200	Active TSS	Fetal Lung	lung
41	chr7:150264400-150266200	Active TSS	Fetal Muscle Trunk	muscle
42	chr7:150264400-150266200	Active TSS	Thymus	Thymus
43	chr7:150264400-150266400	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr7:150264400-150266400	Active TSS	Lung	lung
45	chr7:150264400-150266600	Active TSS	Esophagus	oesophagus
46	chr7:150264400-150266600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:150264400-150266600	Active TSS	Fetal Muscle Leg	muscle
48	chr7:150264400-150266600	Active TSS	Placenta	Placenta
49	chr7:150264400-150266600	Active TSS	Fetal Stomach	stomach
50	chr7:150264400-150266600	Active TSS	Rectal Mucosa Donor 31	rectum

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